Canonical Allele Identifier: CA5452378
Community Standard Title: NM_021252.5(RAB18):c.378+34T>A
Gene: RAB18 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.27533887T>A , CM000672.2:g.27533887T>A GRCh38
NC_000010.10:g.27822816T>A , CM000672.1:g.27822816T>A GRCh37
NC_000010.9:g.27862822T>A NCBI36
NG_032035.1:g.34714T>A

Transcript Alleles

HGVS Amino-acid Change
NM_021252.5:c.378+34T>A MANE Select NP_067075.1:n.378+34T>A
ENST00000356940.11:c.378+34T>A MANE Select ENSP00000349415.7:n.378+34T>A
NM_001256410.1:c.465+34T>A NP_001243339.1:n.465+34T>A
NM_001256410.2:c.465+34T>A NP_001243339.1:n.465+34T>A
NM_001256411.1:c.378+34T>A NP_001243340.1:n.378+34T>A
NM_001256411.2:c.378+34T>A NP_001243340.1:n.378+34T>A
NM_001256412.1:c.187-41T>A NP_001243341.1:n.187-41T>A
NM_001256412.2:c.187-41T>A NP_001243341.1:n.187-41T>A
NM_001256415.1:c.306+34T>A NP_001243344.1:n.306+34T>A
NM_001256415.2:c.306+34T>A NP_001243344.1:n.306+34T>A
NM_021252.4:c.378+34T>A NP_067075.1:n.378+34T>A
NR_046172.1:n.512+34T>A
NR_046172.2:n.382+34T>A
ENST00000356940.10:c.378+34T>A ENSP00000349415.6:n.378+34T>A
ENST00000375802.7:c.243+34T>A ENSP00000364960.3:n.243+34T>A
ENST00000423465.1:c.715+34T>A
ENST00000465772.5:n.371+34T>A
ENST00000535776.5:c.187-41T>A ENSP00000439321.1:n.187-41T>A
ENST00000535776.6:c.465+34T>A ENSP00000439321.2:n.465+34T>A
ENST00000611151.4:c.306+34T>A ENSP00000483927.1:n.306+34T>A
ENST00000611151.5:c.*166+34T>A ENSP00000483927.2:n.*166+34T>A
ENST00000621805.4:c.465+34T>A ENSP00000478479.1:n.465+34T>A
ENST00000621805.5:c.465+34T>A ENSP00000478479.1:n.465+34T>A
ENST00000682082.1:c.378+34T>A ENSP00000507542.1:n.378+34T>A
ENST00000682173.1:c.57-41T>A
ENST00000682181.1:c.*683+34T>A ENSP00000507392.1:n.*683+34T>A
ENST00000682389.1:c.187-41T>A ENSP00000507154.1:n.187-41T>A
ENST00000682518.1:n.353T>A
ENST00000682668.1:c.731+34T>A
ENST00000682777.1:n.1505T>A
ENST00000682852.1:c.*223+34T>A ENSP00000508341.1:n.*223+34T>A
ENST00000682963.1:c.27+34T>A ENSP00000507532.1:n.27+34T>A
ENST00000683042.1:n.496T>A
ENST00000683385.1:n.245T>A
ENST00000683419.1:c.*166+34T>A ENSP00000508094.1:n.*166+34T>A
ENST00000683446.1:n.311+34T>A
ENST00000683538.1:c.731+34T>A
ENST00000683755.1:c.378+34T>A ENSP00000506993.1:n.378+34T>A
ENST00000683797.1:c.27+34T>A ENSP00000508179.1:n.27+34T>A
ENST00000683816.1:c.*302-41T>A ENSP00000507834.1:n.*302-41T>A
ENST00000683866.1:c.181+34T>A
ENST00000683924.1:c.162+34T>A ENSP00000507963.1:n.162+34T>A
ENST00000684134.1:n.5338+34T>A
ENST00000684393.1:c.*683+34T>A ENSP00000507136.1:n.*683+34T>A
ENST00000684501.1:c.378+34T>A ENSP00000507589.1:n.378+34T>A